Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder
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چکیده
منابع مشابه
Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder.
We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular cytogenetic approaches by fluorescence in situ hybridization technique, the karyotype was demonstrated as 47,XX,+mar.ish der(15)(D15Z1++,D15S11++,GABRB3++,PML-). Duplication of th...
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We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluores...
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Autistic disorder is a complex genetic disease. Because of previous reports of individuals with autistic disorder with duplications of the Prader-Willi/Angelman syndrome critical region, we screened several markers across the 15q11-13 region, for linkage disequilibrium. One hundred forty families, consisting predominantly of a child with autistic disorder and both parents, were studied. Genotyp...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2002
ISSN: 0004-282X
DOI: 10.1590/s0004-282x2002000200021